NDP - norrin cystine knot growth factor NDP Gene

Also Known as ND; EVR2; FEVR

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4693

About NDP

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:43,948,776-43,973,390 (from NCBI)

This gene has 3 transcripts (splice variants), 93 orthologues and is associated with 9 phenotypes. Biased expression in ovary (RPKM 17.5), endometrium (RPKM 9.6) and 3 other tissues.

Summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

NDP Products (1)

mRNA Protein Name
NM_000266.4 NP_000257.1 norrin precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables cytokine activity IDA
IDA: Inferred from direct assay
17955262 GOA
enables frizzled binding IPI
IPI: Inferred from physical interaction
17955262 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17955262 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
17955262 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in Norrin signaling pathway IDA
IDA: Inferred from direct assay
15035989 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15035989 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cell surface IDA
IDA: Inferred from direct assay
17955262 GOA
located in collagen-containing extracellular matrix IDA
IDA: Inferred from direct assay
15035989 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
17955262 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDP Protein Structure

Cys_knot

Cys_knot: Cystine-knot domain (47 - 132)

  • 0
  • 100
  • 133 a.a.
Protein Preferred Names Protein Names

norrin

  • NDP, norrin cystine knot growth factor

NDP Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
NDP Q00604 FZD4 Homo sapiens Q9ULV1
Anti Tag CoIP
19837033
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NDP Proteins

製品番号 製品名 アクセッション番号 純度
HY-P79124 Norrin Protein, Human Q00604 (K25-S133) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P79131 Norrin Protein, Mouse P48744 (K25-S131) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
Norrie Disease

  • Atrophia Bulborum Hereditaria

  • Episkopi Blindness

  • Pseudoglioma

  • ND

  • Norrie-Warburg Disease

  • Anderson-Warburg Syndrome

  • Fetal Iritis Syndrome

  • Norrie Syndrome

  • Norrie-Warburg Syndrome

  • Ndp

  • Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

  • Norrie'S Disease

  • Oligophrenia Microphthalmus

  • Pseudoglioma Congenita

  • Whitnall-Norman Syndrome
Exudative Vitreoretinopathy 2, X-Linked

  • EVR2

  • Evrx

  • Fevrx

  • X-Linked Exudative Vitreoretinopathy 2

  • Exudative Vitreoretinopathy, Familial, 2

  • Fevr, X-Linked

  • Vitreoretinopathy, Exudative 2

  • Exudative Vitreoretinopathy Familial 2

  • Fevr X-Linked

  • X-Linked Familial Exudative Vitreoretinopathy

  • Vitreoretinopathy, Exudative, X-Linked, Type 2

  • Exudative Vitreoretinopathy, Familial, X-Linked Recessive
Persistent Hyperplastic Primary Vitreous

  • Congenital Retinal Detachment

  • Ncrna Disease

  • Non-Syndromic Congenital Retinal Non-Attachment

  • Pfvs

  • Phpv

  • Persistent Fetal Vasculature Syndrome
Exudative Vitreoretinopathy

  • Familial Exudative Vitreoretinopathy

  • Fevr

  • Criswick-Schepens Syndrome

  • Exudative Vitreoretinopathy, Familial

  • Vitreoretinopathy, Exudative )

  • Exudative Vitreoretinopathy 1
Retinal Detachment

  • Retinal Detachments

  • Rhegmatogenous Retinal Detachment

  • Ruptured Retina With Detachment

  • Retinal Hole With Detachment
Coats Disease

  • Exudative Retinopathy

  • Retinal Telangiectasis

  • Coats' Disease

  • Leber Miliary Aneurysm

  • Coats' Syndrome

  • Congenital Retinal Telangiectasia
Vitreoretinopathy
Exudative Vitreoretinopathy 1

  • Retinopathy Of Prematurity

  • Retrolental Fibroplasia

  • EVR1

  • Criswick-Schepens Syndrome

  • Rop

  • Exudative Vitreoretinopathy, Familial, Autosomal Dominant

  • Fevr, Autosomal Dominant

  • Premature Retinopathy

  • Vitreoretinopathy, Exudative 1

  • Autosomal Dominant Familial Exudative Vitreoretinopathy

  • Fevr

  • Vitreoretinopathy, Exudative, Type 1

  • Retinopathy Of Prematurity Nos

  • Rlf- [Retrolental Fibroplasia]

  • Rop - [Retinopathy Of Prematurity]

  • Terry Syndrome
Retinal Vascular Disease

  • Retinal Vascular

  • Retinal Vascular Disorder

  • Retina Circulation Disorder
Osteoporosis-Pseudoglioma Syndrome

  • OPPG

  • Ops

  • Osteoporosis With Pseudoglioma

  • Osteogenesis Imperfecta, Ocular Form

  • Ocular Form Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Ocular Form

  • Osteoporosis Pseudoglioma Syndrome

  • Pseudoglioma With Bone Fragility
Ndp-Related Retinopathies
Retinal Telangiectasia
Telangiectasis

  • Telangiectasia
Leukocoria

  • Leucocoria
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Vitreous Disease

  • Disorder Of Vitreous Body
Osteoporosis

  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
製品番号 製品名 製品効果
純度 Phase
HY-107139 JNJ-10229570 Antagonist 98.0% Phase 2

Pre-clinical Phase

Bioactive Molecules (8)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-113206A D-Sedoheptulose-7-phosphate barium 99.70% Unkown
HY-P2881 Nucleoside diphosphate kinase / Unkown
HY-113206 D-Sedoheptulose 7-phosphate ≥98.0% Unkown
HY-E70122 Uridylate kinase / Unkown
HY-121183 Aprikalim Activator / Unkown
HY-RS09113 NDP Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19302 Ndp Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25793 Ndp Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris NDP VGNC VGNC:43678
Mus musculus NDP MGD MGI:102570
Bos taurus NDP VGNC VGNC:31939
Macaca mulatta NDP VGNC VGNC:75150
Rattus norvegicus NDP RGD RGD:1563968
Others NDP NCBI